Canonical Allele Identifier: CA2317482732

Gene: ABCA7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1047080_1047082delinsCAG , CM000681.2:g.1047080_1047082delinsCAG	GRCh38
NC_000019.9:g.1047079_1047081delinsCAG , CM000681.1:g.1047079_1047081delinsCAG	GRCh37
NC_000019.8:g.998079_998081delinsCAG	NCBI36
NG_046909.1:g.11978_11980delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.1845+56_1845+58delinsCAG MANE Select	ENSP00000263094.6:n.1845+56_1845+58delinsCAG
ENST00000433129.6:n.2525+56_2525+58delinsCAG
ENST00000263094.10:c.1845+56_1845+58delinsCAG	ENSP00000263094.6:n.1845+56_1845+58delinsCAG
ENST00000433129.5:c.1845+56_1845+58delinsCAG	ENSP00000414062.1:n.1845+56_1845+58delinsCAG
ENST00000435683.6:c.1431+56_1431+58delinsCAG	ENSP00000465322.1:n.1431+56_1431+58delinsCAG
ENST00000533574.1:n.264-77_264-75delinsCAG
NM_019112.3:c.1845+56_1845+58delinsCAG	NP_061985.2:n.1845+56_1845+58delinsCAG
XM_006722616.1:c.1845+56_1845+58delinsCAG	XP_006722679.1:n.1845+56_1845+58delinsCAG
XM_006722617.2:c.1845+56_1845+58delinsCAG	XP_006722680.1:n.1845+56_1845+58delinsCAG
XM_011527628.1:c.1845+56_1845+58delinsCAG	XP_011525930.1:n.1845+56_1845+58delinsCAG
XM_011527629.1:c.1845+56_1845+58delinsCAG	XP_011525931.1:n.1845+56_1845+58delinsCAG
XM_011527630.1:c.1845+56_1845+58delinsCAG	XP_011525932.1:n.1845+56_1845+58delinsCAG
XM_011527631.1:c.1845+56_1845+58delinsCAG	XP_011525933.1:n.1845+56_1845+58delinsCAG
XM_011527632.1:c.1389+56_1389+58delinsCAG	XP_011525934.1:n.1389+56_1389+58delinsCAG
XM_011527633.1:c.1845+56_1845+58delinsCAG	XP_011525935.1:n.1845+56_1845+58delinsCAG
XM_011527634.1:c.1845+56_1845+58delinsCAG	XP_011525936.1:n.1845+56_1845+58delinsCAG
XM_011527635.1:c.1845+56_1845+58delinsCAG	XP_011525937.1:n.1845+56_1845+58delinsCAG
XR_936148.1:n.2063+56_2063+58delinsCAG
XR_936149.1:n.2063+56_2063+58delinsCAG
XR_936150.1:n.2063+56_2063+58delinsCAG
XR_936151.1:n.2063+56_2063+58delinsCAG
XR_936152.1:n.2063+56_2063+58delinsCAG
XR_936153.1:n.2063+56_2063+58delinsCAG
XR_936154.1:n.2063+56_2063+58delinsCAG
XR_936155.1:n.2063+56_2063+58delinsCAG
XM_011527633.2:c.1845+56_1845+58delinsCAG	XP_011525935.1:n.1845+56_1845+58delinsCAG
XM_017026143.1:c.1845+56_1845+58delinsCAG	XP_016881632.1:n.1845+56_1845+58delinsCAG
XM_024451315.1:c.1845+56_1845+58delinsCAG	XP_024307083.1:n.1845+56_1845+58delinsCAG
XM_024451316.1:c.1845+56_1845+58delinsCAG	XP_024307084.1:n.1845+56_1845+58delinsCAG
XM_024451317.1:c.1845+56_1845+58delinsCAG	XP_024307085.1:n.1845+56_1845+58delinsCAG
XM_024451318.1:c.1845+56_1845+58delinsCAG	XP_024307086.1:n.1845+56_1845+58delinsCAG
XM_024451319.1:c.1845+56_1845+58delinsCAG	XP_024307087.1:n.1845+56_1845+58delinsCAG
XM_024451320.1:c.1845+56_1845+58delinsCAG	XP_024307088.1:n.1845+56_1845+58delinsCAG
XM_024451321.1:c.1845+56_1845+58delinsCAG	XP_024307089.1:n.1845+56_1845+58delinsCAG
XM_024451322.1:c.1389+56_1389+58delinsCAG	XP_024307090.1:n.1389+56_1389+58delinsCAG
XM_024451323.1:c.1845+56_1845+58delinsCAG	XP_024307091.1:n.1845+56_1845+58delinsCAG
XR_001753585.1:n.2063+56_2063+58delinsCAG
XR_001753586.1:n.2063+56_2063+58delinsCAG
XR_002958240.1:n.2063+56_2063+58delinsCAG
XR_002958241.1:n.2063+56_2063+58delinsCAG
XR_002958242.1:n.2063+56_2063+58delinsCAG
NM_019112.4:c.1845+56_1845+58delinsCAG MANE Select	NP_061985.2:n.1845+56_1845+58delinsCAG